Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29914
Gene name Gene Name - the full gene name approved by the HGNC.
UbiA prenyltransferase domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UBIAD1
Synonyms (NCBI Gene) Gene synonyms aliases
SCCD, TERE1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SCCD
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.22
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs118203949 A>G Pathogenic Missense variant, intron variant, coding sequence variant
rs118203952 G>A Pathogenic Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs118203953 C>G,T Pathogenic Synonymous variant, missense variant, intron variant, coding sequence variant
rs397514669 G>A Pathogenic Coding sequence variant, missense variant, intron variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT026804 hsa-miR-192-5p Microarray 19074876
MIRT046775 hsa-miR-222-3p CLASH 23622248
MIRT734970 hsa-miR-4644 Luciferase reporter assay, Western blotting, qRT-PCR 33194029
MIRT1469853 hsa-miR-106a CLIP-seq
MIRT1469854 hsa-miR-106b CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004659 Function Prenyltransferase activity EXP 20953171, 25874989
GO:0004659 Function Prenyltransferase activity IBA 21873635
GO:0004659 Function Prenyltransferase activity IDA 20953171
GO:0005515 Function Protein binding IPI 23169578, 30518913, 32296183
GO:0005634 Component Nucleus IDA 11314041
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611632 30791 ENSG00000120942
Protein
UniProt ID Q9Y5Z9
Protein name UbiA prenyltransferase domain-containing protein 1 (EC 2.5.1.-) (EC 2.5.1.39) (Transitional epithelial response protein 1)
Protein function Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10 (PubMed:20953171, PubMed:23374346). MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothe
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01040 UbiA 61 328 UbiA prenyltransferase family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:11314041}.
Sequence
Sequence length 338
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Metabolism of vitamin K
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Corneal dystrophy Corneal dystrophy rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Schnyder crystalline corneal dystrophy Schnyder crystalline corneal dystrophy rs118203945, rs118203946, rs118203947, rs118203948, rs118203949, rs118203950, rs118203951, rs118203952, rs118203953, rs397514669 17668063, 23169578, 20505825, 22065921, 23374346, 18176953, 17962451, 20489584, 19649163, 19429578
Associations from Text Mining
Disease Name Relationship Type References
Arcus Senilis Associate 30223810
Calcinosis Inhibit 26890002
Cardiovascular Diseases Associate 23977195
Cholangiocarcinoma Associate 34211100
Corneal Diseases Associate 19649163
Corneal Dystrophy Crystalline of Schnyder Associate 19399176, 19649163, 20505825, 23169578, 23977195, 25742604, 30084067, 30223810, 32188638, 32602245
Dyslipidemias Associate 30223810
Eye Diseases Associate 20505825
Melanoma Associate 35255427
Neoplasms Inhibit 23919967, 23977195